Variant report

Variant	esv3418515
Chromosome Location	chr1:169194288-169194848
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:169192162..169194718-chr1:169212473..169215131,2	K562	blood:
2	chr1:169193895..169196797-chr1:169197836..169199358,2	MCF-7	breast:

Extended variants
information (count: 18 )
Associated
traits (count: 93 )

Variant overlapped rSNPs/rCNVs (count:18 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs577038314	chr1:169194320-169194321	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs541102563	chr1:169194348-169194349	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs560020217	chr1:169194373-169194374	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs530305560	chr1:169194496-169194497	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs187494465	chr1:169194503-169194504	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs563828389	chr1:169194504-169194505	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs531194138	chr1:169194534-169194535	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs559259808	chr1:169194544-169194545	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs531473433	chr1:169194545-169194546	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs191425094	chr1:169194554-169194555	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs534825404	chr1:169194577-169194578	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs546680460	chr1:169194617-169194618	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs565586464	chr1:169194636-169194637	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs6701686	chr1:169194640-169194641	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
15	rs183910935	chr1:169194641-169194642	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs576277035	chr1:169194646-169194647	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs188741003	chr1:169194651-169194652	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs558611739	chr1:169194722-169194723	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:93)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Autism	22495311	CNVD
Hepatocellular carcinoma	16750200	CNVD
Liposarcoma	21253554	CNVD
Burkitt''s lymphoma	18698080	CNVD
Melanoma	18172304	CNVD
Glioblastoma multiforme	21080181	CNVD
Cancer	21183584	CNVD
Multiple myeloma	16461302	CNVD
Rett syndrome	21593744	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Medulloblastoma	21979893	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	CNVD
Non-small cell lung cancer	21829676	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Non-small cell lung cancer	21044232	CNVD
Cervical cancer	21063398	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	20632083	CNVD
Endometrial cancer	22040021	CNVD
Ewing''s sarcoma	21437220	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Medulloblastoma	21292688	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	21264507	CNVD
Multiple myeloma	21628407	CNVD
Cancer	16751803	CNVD
Prostate cancer	16705090	CNVD
Neuroblastoma	19435921	CNVD
Breast cancer	17850661	CNVD
Breast cancer	16461572	CNVD
Intracranial tumor	16823260	CNVD
Medulloblastoma	18056178	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Neuroblastoma	21899760	CNVD
Bladder cancer	19088036	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17002787	CNVD
Breast cancer	21858162	CNVD
Retinoblastoma	19183342	CNVD
Non-small cell lung cancer	21385341	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	16608533	CNVD
Ewing''s sarcoma	22429812	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Chordoma	18071362	CNVD
Hepatocellular carcinoma	18803288	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17001317	CNVD
Urothelial carcinoma	21177765	CNVD
Burkitt''s lymphoma	19759907	CNVD
Acute myeloid leukemia	21251322	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21509527	CNVD
Acute myeloid leukemia	20729466	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Testicular germ cell tumor	18059402	CNVD
Trisomy 5 syndrome	21098271	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Breast cancer	21611746	CNVD
Neuroblastoma	18923191	CNVD
Soft tissue tumor	16732325	CNVD
Cancer	17060936	CNVD
Lung cancer	16740712	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Ewing''s sarcoma	17952124	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Williams-beuren syndrome	16971481	CNVD
Developmental delay	21147756	CNVD
Burkitt''s lymphoma	20823134	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Lung cancer	18438408	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:169130400-169195200	Weak transcription	Pancreas	Pancrea
2	chr1:169172400-169207600	Weak transcription	Esophagus	oesophagus
3	chr1:169172600-169227000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr1:169173200-169202000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr1:169176600-169206200	Weak transcription	Aorta	Aorta
6	chr1:169177400-169207400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr1:169180000-169210000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr1:169180600-169206200	Weak transcription	Left Ventricle	heart
9	chr1:169182000-169201000	Weak transcription	Cortex derived primary cultured neurospheres	brain
10	chr1:169182800-169205400	Weak transcription	Adipose Nuclei	Adipose
11	chr1:169184000-169198800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr1:169184400-169206200	Weak transcription	Lung	lung
13	chr1:169184600-169200600	Weak transcription	Fetal Stomach	stomach
14	chr1:169184800-169207400	Weak transcription	Ovary	ovary
15	chr1:169185000-169200800	Weak transcription	Fetal Intestine Small	intestine
16	chr1:169185800-169194400	Weak transcription	Primary B cells from cord blood	blood
17	chr1:169187600-169200200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
18	chr1:169187600-169207800	Weak transcription	Primary T cells from cord blood	blood
19	chr1:169187800-169211800	Weak transcription	Primary hematopoietic stem cells	blood
20	chr1:169191600-169198400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
21	chr1:169192200-169209600	Weak transcription	NHEK	skin
22	chr1:169192400-169210000	Weak transcription	Brain Hippocampus Middle	brain
23	chr1:169192600-169202800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr1:169193000-169196800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr1:169194000-169194600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr1:169194000-169210000	Weak transcription	NHDF-Ad	bronchial
27	chr1:169194400-169194800	Enhancers	Primary B cells from cord blood	blood
28	chr1:169194400-169194800	Enhancers	Primary B cells from peripheral blood	blood
29	chr1:169194400-169194800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr1:169194600-169194800	Enhancers	Sigmoid Colon	Sigmoid Colon
31	chr1:169194600-169198400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr1:169194800-169200600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr1:169194800-169207400	Weak transcription	Primary B cells from cord blood	blood
34	chr1:169194800-169214000	Weak transcription	Sigmoid Colon	Sigmoid Colon

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